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Aliases & Descriptions for SARDH
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases BPR-2 3 DMGDHL1 2 , 3 EC 1.5.99.1 3 FLJ36475 2 OTTHUMP00000022503 2 OTTHUMP00000064625 2 SAR 2 , 5 SARD 2 , 5 SDH 1 , 2 SarDH 3
Descriptions dimethylglycine dehydrogenase-like 1 2 sarcosine dehydrogenase 2
Search outside databases for aliases for SARDH genePrevious GC identifers: GC09M127604 GC09P128054 GC09M129954 GC09M131870 GC09M133558
Summaries for SARDH (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for SARDH : This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidativedemethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme,dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine.Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variantshave been described. [provided by RefSeq] Gene Wiki entry for SARDH
Genomic Location for SARDH
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the SARDH gene Entrez Gene cytogenetic band: 9q33-q34 Ensembl cytogenetic band: 9q34.2 HGNC cytogenetic band: 9q33-q34 SARDH Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure
GeneLoc location for GC09M135518:
(about GC identifiers )
Start:
135,518,503 bp from pter
End:
135,594,863 bp from pter
Size:
76,361 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000009.10 NT_035014.4 Proteins for SARDH
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: SARDH_HUMAN, Q9UL12 (See
protein sequence )Recommended Name: Sarcosine dehydrogenase, mitochondrial precursor Size : 918 amino acids; 101037 Da
Cofactor : Binds 1 FAD covalently per monomer (By similarity)
Subcellular location : Mitochondrion matrix (By similarity)
Sequence caution : Sequence=AAD33412.1; Type=Frameshift; Positions=867;
Secondary accessions : B2RMR5 Q5SYV0 Q9Y280 Q9Y2Y3
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001128179.1 NP_009032.2 ENSEMBL proteins: ENSP00000360938 ENSP00000360934 ENSP00000376770 ENSP00000360933 ENSP00000298628 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for SARDH: Assays for SARDH:
Protein
Domains/ Families for SARDH(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9UL12 ProtoNet protein and cluster: Q9UL12
1 Blocks protein family : IPB006222 Glycine cleavage T protein (aminomethyl transferase) UniProtKB/Swiss-Prot: SARDH_HUMAN, Q9UL12 Similarity : Belongs to the gcvT family
Gene Function for SARDH
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
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Clones , and
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Millipore ,
OriGene , and/or
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_007101 Applied Biosystems Silencer ® siRNAs for SARDH Sigma-Aldrich siRNA for SARDH Sigma-Aldrich shRNA for SARDH Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001134707                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001134707                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001134707  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001134707 UniProtKB/Swiss-Prot: SARDH_HUMAN, Q9UL12 Catalytic activity : Sarcosine + acceptor + H(2)O = glycine + formaldehyde + reduced acceptorEnzyme Number (IUBMB): EC 1.5.99.1
Genatlas biochemistry entry for SARDH :sarcosine dehydrogenase,catalyzing qlycine synthesis,"one-carbone" metabolism,liver motochondrialflavoenzyme 3 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0004047 aminomethyltransferase activity
IEA -- GO:0008480 sarcosine dehydrogenase activity
IEA -- GO:0016491 oxidoreductase activity
IEA --
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Pathways & Interactions for SARDH
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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4 Sigma-Aldrich "Your Favorite Gene" Pathways for SARDH (Your Favorite Gene powered by Ingenuity) UniProtKB/Swiss-Prot: SARDH_HUMAN, Q9UL12 Pathway : Amine and polyamine degradation; sarcosine degradation; formaldehyde and glycine fromsarcosine: step 1/1
5/14 Interacting proteins for SARDH (ENSP00000360938 3 ) via UniProtKB, MINT, and/or STRING (see all 14
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0006546 glycine catabolic process
IEA -- GO:0055114 oxidation reduction
IEA --
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Drugs & Compounds for SARDH (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for SARDH 3 Novoseek chemical compound relationships for SARDH gene
About this table
Transcripts for SARDH(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_007101 Sigma-Aldrich siRNA for SARDH Sigma-Aldrich shRNA for SARDH Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001134707 NM_007101
REFSEQ mRNAs for SARDH gene (2 alternative transcripts): NM_001134707.1 NM_007101.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001134707 NM_007101
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001134707                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001134707                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001134707  
Additional cDNA sequence: AB073898.1 AF047004.1 AF047190.1 AF095735.2 AF095736.2 AF095737.2 AF129265.1 AF129266.1 AF162428.1 AJ223317.1 AK093794.1 AK223402.1 AK291211.1 AK298348.1 AK316494.1 BC033217.1 BC041574.1 BC136363.1 BC136364.1 BC144035.1 CR593278.1 CR597974.1 CR602119.1
12 DOTS entries : DT.40198284 DT.95157356 DT.100777178 DT.100668990 DT.121145085 DT.95157357 DT.91787189 DT.100777179 DT.95157355 DT.101969589 DT.121145033 DT.121145087
24/65 AceView cDNA sequences (see all 65
):CB136701 NM_007101 BE294520 CR602119 AL602561 CR593278 AF095736 BU500834 CR597974 BE207913 AF095735 BC041574 AI245607 AI566543 BP346577 AI823391 BP357983 BM789463 BX463066 AF129265 BE293990 BV207896 BX343603 CD675365
highest scoring ESTs for SARDH :AF095735 AF095737 AI986213 AA300315 AF095736 AF129265 AF162428 AI214896 AI245607 AI399918
Unigene Cluster for SARDH: Sarcosine dehydrogenase Hs.198003 [show with all ESTs ] Unigene Representative Sequence: NM_007101 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for SARDH ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 SP1 :                       -               SP2 :                                     SP3 :                                     SP4 :                                     SP5 :                                    
About this scheme ECgene alternative splicing isoforms for SARDH 5 Ensembl transcripts including schematic representations : ENST00000371872
ENST00000371868
ENST00000393050
ENST00000371867
ENST00000298628
Expression for SARDH
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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SARDH expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for SARDH 1 / 2 / 3
10 probe-sets matching SARDH gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GCTTGTAGCCSOURCE GeneReport for Unigene cluster: Hs.198003 Expression variation in blood from EXPOLDB for SARDH
Orthologs for SARDH
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for SARDH gene from 5/11 species (see all 11
)
About this table Species with no ortholog for SARDH ENSEMBL Gene Tree for SARDH Paralogs for SARDH (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for SARDH gene PDPR 2 ENSG00000214331 2 DMGDH 2
SNPs/Variants for SARDH (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for SARDH (up to first 250kb)
Disorders & Mutations for SARDH
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 604455 disorders : 268900 UniProtKB/Swiss-Prot: SARDH_HUMAN, Q9UL12
Defects in SARDH are a ause of sarcosinemia [MIM:268900]. Sarcosinemia is a metabolicdisorder characterized by an increased concentration of sarcosine in plasma and urine due tosarcosine dehydrogenase deficiency. Prevalence has been estimated at 1:28'000 to 1:350'000 innewborn screening programs. Sarcosinemia is most probably a benign condition without significantclinical problems. It is transmitted in an autosomal recessive manner
3 Novoseek disease relationships for SARDH gene
About this table Genatlas disease: SARDH sarcosinemia Human Genome Epidemiology Navigator: SARDH (1 document)
Medical News for SARDH (Possibly Related Articles in
Doctor's Guide )
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--
Publications for SARDH (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/49 PubMed articles for SARDH gene (see all 49
):
Search for SARDH
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SARDH
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing SARDH
(According to HUGE )
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--
Specialized Databases showing SARDH (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for SARDH (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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